| TMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TMC8 , EV2, EVER2, EVIN2, transmembrane channel like 8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605829; MGI: 2669037; HomoloGene: 45126; GeneCards: TMC8; OMA:TMC8 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene. [5] [6]
The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [6]
Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. [6]
Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.
Keratin 16 is a protein that in humans is encoded by the KRT16 gene.
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. It results from an abnormal susceptibility to HPV infection (HPV) and is associated with a high lifetime risk of squamous cell carcinomas in skin. It generally presents with scaly spots and small bumps particularly on the hands, feet, face and neck; typically beginning in childhood or in a young adult. The bumps tend to be flat, grow in number and then merge to form plaques. On the trunk, it typically appears like pityriasis versicolor; lesions there being slightly scaly and tan, brown, red or looking pale. On the elbows, it may appear like psoriasis. On the forehead, neck and trunk, the lesions may appear like seborrheic keratosis.
Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion, identified by Diaz and colleagues in 1990.
Frizzled-5(Fz-5) is a protein that in humans is encoded by the FZD5 gene.
Leucine-rich repeat-containing G-protein coupled receptor 6 is a protein that in humans is encoded by the LGR6 gene. Along with the other G-protein coupled receptors LGR4 and LGR5, LGR6 is a Wnt signaling pathway mediator. LGR6 also acts as an epithelial stem cell marker in squamous cell carcinoma in mice in vivo.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Protein-glutamine gamma-glutamyltransferase E is an enzyme that in humans is encoded by the TGM3 gene.
Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.
Corneodesmosin is a protein that in humans is encoded by the CDSN gene.
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.
P2X purinoceptor 5 is a protein in humans that is encoded by the P2RX5 gene.
Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.
Signaling threshold-regulating transmembrane adapter 1 is a protein that in humans is encoded by the SIT1 gene.
Transcription factor RFX3 is a protein that in humans is encoded by the RFX3 gene.
Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.
Desmoglein-4 is a protein that in humans is encoded by the DSG4 gene.
Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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